| Natural variation in human gene expression assessed in lymphoblastoid cells VG Cheung, LK Conlin, TM Weber, M Arcaro, KY Jen, M Morley, ... Nature genetics 33 (3), 422-425, 2003 | 784 | 2003 |
| Performance of ACMG-AMP variant-interpretation guidelines among nine laboratories in the clinical sequencing exploratory research consortium LM Amendola, GP Jarvik, MC Leo, HM McLaughlin, Y Akkari, MD Amaral, ... The American Journal of Human Genetics 98 (6), 1067-1076, 2016 | 599 | 2016 |
| Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis LK Conlin, BD Thiel, CG Bonnemann, L Medne, LM Ernst, EH Zackai, ... Human molecular genetics 19 (7), 1263-1275, 2010 | 525 | 2010 |
| High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications TH Shaikh, X Gai, JC Perin, JT Glessner, H Xie, K Murphy, R O'Hara, ... Genome research 19 (9), 1682-1690, 2009 | 432 | 2009 |
| Return of genomic results to research participants: the floor, the ceiling, and the choices in between GP Jarvik, LM Amendola, JS Berg, K Brothers, EW Clayton, W Chung, ... The American Journal of Human Genetics 94 (6), 818-826, 2014 | 423 | 2014 |
| Actionable exomic incidental findings in 6503 participants: challenges of variant classification LM Amendola, MO Dorschner, PD Robertson, JS Salama, R Hart, ... Genome research 25 (3), 305-315, 2015 | 368 | 2015 |
| Diagnostic implications of excessive homozygosity detected by SNP-based microarrays: consanguinity, uniparental disomy, and recessive single-gene mutations HM Kearney, JB Kearney, LK Conlin Clinics in laboratory medicine 31 (4), 595-613, 2011 | 169 | 2011 |
| Clinical sequencing exploratory research consortium: accelerating evidence-based practice of genomic medicine RC Green, KAB Goddard, GP Jarvik, LM Amendola, PS Appelbaum, ... The American Journal of Human Genetics 98 (6), 1051-1066, 2016 | 168 | 2016 |
| Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study MR Hart, BB Biesecker, CL Blout, KD Christensen, LM Amendola, ... Genetics in Medicine 21 (5), 1100-1110, 2019 | 145 | 2019 |
| Mechanisms of ring chromosome formation, ring instability and clinical consequences RS Guilherme, VF Ayres Meloni, CA Kim, R Pellegrino, SS Takeno, ... BMC medical genetics 12, 1-7, 2011 | 144 | 2011 |
| Genome‐wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment LJ Francey, LK Conlin, HE Kadesch, D Clark, D Berrodin, Y Sun, ... American journal of medical genetics Part A 158 (2), 298-308, 2012 | 105 | 2012 |
| The natural osmolyte trehalose is a positive regulator of the heat-induced activity of yeast heat shock transcription factor LK Conlin, HCM Nelson Molecular and cellular biology 27 (4), 1505-1515, 2007 | 95 | 2007 |
| Neurodevelopmental disorders caused by de novo variants in KCNB1 genotypes and phenotypes CGF De Kovel, S Syrbe, EH Brilstra, N Verbeek, B Kerr, H Dubbs, A Bayat, ... JAMA neurology 74 (10), 1228-1236, 2017 | 88 | 2017 |
| Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith–Wiedemann syndrome JM Kalish, KE Boodhansingh, TR Bhatti, A Ganguly, LK Conlin, SA Becker, ... Journal of Medical Genetics 53 (1), 53-61, 2016 | 86 | 2016 |
| Interstitial microduplication of Xp22. 31: Causative of intellectual disability or benign copy number variant? F Li, Y Shen, U Köhler, FH Sharkey, D Menon, L Coulleaux, V Malan, ... European journal of medical genetics 53 (2), 93-99, 2010 | 84 | 2010 |
| Mosaicism and clinical genetics NB Spinner, LK Conlin American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2014 | 82 | 2014 |
| Automated clinical exome reanalysis reveals novel diagnoses SW Baker, JR Murrell, AI Nesbitt, KB Pechter, J Balciuniene, X Zhao, Z Yu, ... The Journal of Molecular Diagnostics 21 (1), 38-48, 2019 | 81 | 2019 |
| Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure S Mulchandani, EJ Bhoj, M Luo, N Powell-Hamilton, K Jenny, KW Gripp, ... Genetics in Medicine 18 (4), 309-315, 2016 | 80 | 2016 |
| Mutations in the ABCC6 gene as a cause of generalized arterial calcification of infancy: genotypic overlap with pseudoxanthoma elasticum Q Li, JL Brodsky, LK Conlin, B Pawel, AC Glatz, RI Gafni, L Schurgers, ... Journal of Investigative Dermatology 134 (3), 658-665, 2014 | 78 | 2014 |
| Clinical features of three girls with mosaic genome‐wide paternal uniparental isodisomy JM Kalish, LK Conlin, TR Bhatti, HA Dubbs, MC Harris, K Izumi, ... American journal of medical genetics Part A 161 (8), 1929-1939, 2013 | 78 | 2013 |
